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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
Open accessAbstract
The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of these diseases. Here we have investigated samples from 679 patients and controls for the nonreceptor tyrosine kinase JAK2 V617F mutation. Of the 480 myeloproliferative disorder (MPD) samples, the proportion of positive cases per disease subtype was 30 (20%) of 152 for atypical or unclassified MPD, 2 of 134 (2%) for idiopathic hypereosinophilic syndrome, 58 of 72 (81%) for polycythemia vera, 24 of 59 (41%) essential thrombocythemia (ET), and 15 of 35 (43%) for idiopathic myelofibrosis. V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). Homozygosity for V617F was seen in 43% of mutant samples and was closely correlated with chromosome 9p uniparental disomy. Homozygosity was significantly less common in ET compared with other MPD subtypes. In 53 cases analyzed, the median level of PRV1 expression was significantly higher in V617F-positive cases compared with cases without the mutation. We conclude that V617F is widespread in MPDs. Detection of this acquired mutation is likely to have a major impact on the way patients with MPD are diagnosed, as well as serving as an obvious target for signal transduction therapy.
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“Activation of JAK2 caused by this mutation leads to constitutive activation of STAT3 and is associated with reduced survival in idiopathic myelofibrosis.54,55”
From Critical analysis of the potential for targeting STAT3 in human malignancy (2013) · cites this paper as [52]
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Items 401–500 of 762
JAK2 activation in myeloproliferative neoplasms: A potential role for heterodimeric receptors
Reuther, G. (2008) · Cell Cycle · doi:10.4161/cc.7.6.5567 · Cited by 16
JAK2 V617F and ringed sideroblasts: not necessarily RARS-T.
Steensma, D., & Tefferi, A. (2008) · Blood · doi:10.1182/blood-2007-11-121608 · Cited by 16
MPL W515L mutation in Chinese patients with myeloproliferative diseases
Xu, W., Li, J.-Y., Xia, J., Zhang, S.-J., Fan, L., & Qiao, C. (2008) · Leukemia and Lymphoma · doi:10.1080/10428190802035966 · Cited by 16
Reiter, A., Grimwade, D., & Cross, N. (2007) · Haematologica · doi:10.3324/haematol.10328 · Cited by 16
“However this will not identify cryptic rearrangements and other approaches such as expression arrays, single nucleotide polymorphism analysis and array comparative genomic hybridization will be required to identify novel molecular aberrations in Eos-MPD.”
BackgroundInfluentialShide, K., Shimoda, K., Kamezaki, K., Kakumitsu, H., Kumano, T., Numata, A., Ishikawa, F., Takenaka, K., Yamamoto, K., Matsuda, T., et al. (2006) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2006.08.018 · Cited by 16
Atypical Chronic Myeloid Leukemia: A Rare Entity with Management Challenges
Dhakal, P., Gundabolu, K., Amador, C., Rayamajhi, S., & Bhatt, V. R. (2017) · Future Oncology · doi:10.2217/fon-2017-0334 · Cited by 19
From Drosophila Blood Cells to Human Leukemia.
Boulet, M., Miller, M., Vandel, L., & Waltzer, L. (2018) · Advances in Experimental Medicine and Biology · doi:10.1007/978-981-13-0529-0_11 · Cited by 16
Chronic Neutrophilic Leukemia with V617F JAK2 Mutation
Gajendra, S., Gupta, R., Chandgothia, M., Kumar, L., Gupta, R., & Chavan, S. M. (2014) · Indian Journal of Hematology and Blood Transfusion · doi:10.1007/s12288-012-0203-6 · Cited by 15
Zhou, J., Ye, Y., Zeng, S.-G., Zhou, Y., Mao, Z.-G., Song, X., Ying, B.-W., Lu, X.-J., Jiang, H., & Wang, L.-L. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057856 · Cited by 15
“0)610(12)/L, confirming the conclusion that JAK2 V617F occurred in almost all the PV patients [13].”
Goette, N. P., Lev, P., Heller, P., Kornblihtt, L., Korin, L., Molinas, F., & Marta, R. (2010) · Cytokine · doi:10.1016/j.cyto.2010.04.011 · Cited by 15
Identification of gene networks associated with erythroid differentiation
PELLER, S., Tabach, Y., Rotschild, M., Garach-Joshua, O., Cohen, Y., Goldfinger, N., & Rotter, V. (2009) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2009.01.020 · Cited by 14
Hypereosinophilic syndrome: another face of janus?
Dahabreh, I., Giannouli, S., Zoi, C., Zoi, K., Loukopoulos, D., & Voulgarelis, M. (2008) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2007.12.007 · Cited by 15
Kremer, M., Horn, T., Koch, I., Dechow, T., Gattenloehner, S., Pfeiffer, W., Quintanilla-Martinez, L., & Fend, F. (2008) · American Journal of Surgical Pathology · doi:10.1097/pas.0b013e31815d6305 · Cited by 15
“Among hematologic neoplasms, the mutation is common in polycythemia vera (PV), essential thrombocythemia (ET), and chronic idiopathic myelofibrosis (IMF), but is rare or absent in other myeloid disorders.(2,22,24,25,34,48) PV is virtually always positive for JAK2 in an often homozygous fashion, whereas ET and IMF are…”
BackgroundPrimary myelofibrosis: current therapeutic options
Campos, P. D. M. (2016) · Revista Brasileira de Hematologia e Hemoterapia · doi:10.1016/j.bjhh.2016.04.003 · Cited by 13
“bone marrow translantation) and/or higher life expectations, iron chelation hould be considered in order to prevent iron-induced organ 1 6;3 8(3):257–263 259”
BackgroundInfluentialMerker, J. D., Roskin, K. M., Ng, D., Pan, C., Fisk, D. G., King, J. M., Hoh, R. A., Stadler, M. R., Okumoto, L. M., Abidi, P., et al. (2013) · Haematologica · doi:10.3324/haematol.2013.092379 · Cited by 11
The Haplotype of the TGFβ1 Gene Associated with Cerebral Infarction in Chinese
Tao, H.-M., Chen, G.-Z., Cheng, G., & Shan, X.-Y. (2012) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100015365 · Cited by 14
Molecular diagnosis of leukemia
Mason, J., & Griffiths, M. (2012) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.12.44 · Cited by 19
JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in Chinese patients with primary myelofibrosis
Xia, J., Lu, M.-Z., Jiang, Y., Yang, G.-H., Zhuang, Y., Sun, H., & Shen, Y.-F. (2012) · Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · doi:10.1007/s11670-012-0072-4 · Cited by 14
“In 2005, using different approaches, several independent groups virtually simultaneously reported on a recurrent point mutation in the JAK2 tyrosine kinase (JAK2 V617F) in several MPD, including PV, ET, and PMF[2-6].”
BackgroundAranaz, P., Ormazábal, C., Hurtado, C., Erquiaga, I., Calasanz, M., García-Delgado, M., Novo, F., & Vizmanos, J. (2010) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2010.01.002 · Cited by 14
“Our results confirm that, as previously reported by other groups, FISH analysis is a good technique for detecting the FIP1L1/PDGFRA gene fusion when, because of the variability of the breakpoints in FIP1L1, conventional RT-PCR fails.”
MethodInfluentialPoland, K. S., Shardy, D. L., Azim, M., Naeem, R. C., Krance, R., Dreyer, Z. E., Neeley, E., Zhang, N., Qiu, Y.-H., Kornblau, S., et al. (2009) · Genes, Chromosomes and Cancer · doi:10.1002/gcc.20654 · Cited by 14
“For example, the Janus kinase 2 (JAK2) can be activated by translocation (Peeters et al., 1997) or by point mutation (Jones et al., 2005).”
BackgroundNo evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage
Dahabreh, I., Jones, A., Voulgarelis, M., Giannouli, S., Zoi, C., Alafakis-Tzannatos, C., Varla-Leftherioti, M., Moutsopoulos, H., Loukopoulos, D., Fotiou, S., et al. (2008) · British Journal of Haematology · doi:10.1111/j.1365-2141.2008.07510.x · Cited by 14
“Our study therefore demonstrated no enrichment of JAK2 V617F (estimated prevalence 1”
MethodInfluentialSelf-citationGibson, S. E., Schade, A. E., Szpurka, H., Bąk, B., Maciejewski, J., & Hsi, E. (2008) · Human Pathology · doi:10.1016/j.humpath.2007.10.034 · Cited by 14
Larsen, T., Pallisgaard, N., Møller, M., & Hasselbalch, H. (2008) · Hematology · doi:10.1179/102453308x315960 · Cited by 14
Chase, A., & Cross, N. C. P. (2006) · Clinical Science · doi:10.1042/cs20060035 · Cited by 13
Lifestyle factors and risk of myeloproliferative neoplasms in the NIH-AARP diet and health study
Podoltsev, N., Wang, X., Wang, R., Hofmann, J., Liao, L. M., Zeidan, A., Mesa, R., & Ma, X.-M. (2020) · International Journal of Cancer · doi:10.1002/ijc.32853 · Cited by 13
“Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are three major types of MPN.1 A gain-of-function mutation within the Janus kinase 2 gene (JAK2 V617F) occurs among 81–97% of patients with PV, 41–57% of patients with ET and 43–50% of patients with PMF.2,3 Most MPN patients are dia…”
BackgroundAyer, M., Menken, İ., Yamak, M., Ayer, F. A., Kirkizlar, O., & Aktuğlu, M. B. (2017) · Indian Journal of Hematology and Blood Transfusion · doi:10.1007/s12288-016-0685-8 · Cited by 13
Stengel, A., Kern, W., Haferlach, T., Meggendorfer, M., & Haferlach, C. (2016) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22377 · Cited by 13
Leszczyńska, A., Grzenkowicz-Wydra, J., Chmielewska-Gorycka, L., Bieniaszewska, M., & Hellmann, A. (2016) · Acta Haematologica · doi:10.1159/000446798 · Cited by 13
The Burden of JAK2V617F Mutated Allele in Turkish Patients With Myeloproliferative Neoplasms
Hindilerden, İ. Y., Aday, A. D., Akadam-Teker, B., Yılmaz, C., Nalçacı, M., Yavuz, A. S., & Sargın, D. (2014) · Journal of Clinical Medicine Research · doi:10.14740/jocmr2047w · Cited by 11
“Another study reported the frequency of JAK2V617F mutation in the range of 50-70% among ET patients [27].”
BackgroundChen, P., Chien, F., Lee, S., Chan, W.-E., Lin, I.-H., Liu, C., Lee, F.-J. S., Lai, J.-S., Chen, P., Yang‐Yen, H., et al. (2012) · Cell Cycle · doi:10.4161/cc.21920 · Cited by 12
“To address this issue, we first including Epo, GM-CSF, IL-3, SCF and IGF1.”
MethodBenmoussa, A., Dehbi, H., Fehri, S., Quessar, A., & Nadifi, S. (2011) · Pathologie et biologie · doi:10.1016/j.patbio.2009.06.005 · Cited by 13
Portal Vein Thrombosis and Budd–Chiari Syndrome
Bittencourt, P. L., Couto, C. A., & Ribeiro, D. D. (2009) · Clinics in Liver Disease · doi:10.1016/j.cld.2008.10.002 · Cited by 27
Detection of the JAK2V617F mutation by asymmetric PCR and melt curve analysis
Sutton, B. C., Allen, R., Zhao, Z., & Dunn, S. T. (2007) · Cancer Biomarkers · doi:10.3233/cbm-2007-3605 · Cited by 13
“…V 617 F mutation, including conventional PCR followed by restriction enzyme digestion [3], allele-specific PCR [16], nested allele-specific PCR [2,5,10,29,32,33],nested allele-specific PCR with restriction enzyme digestion [5,29,32], conventional sequencing [8,25] or pyrosequencing [9,10],…”
Michiels, J. (2005) · Hematology · doi:10.1080/10245330512331390456 · Cited by 13
“[76] Jones AV, Kreil S, Xoi K, Waghorn K, Curtis C, Zhang L et al.”
BackgroundBieniaszewska, M., Sobieralski, P., Leszczyńska, A., & Dutka, M. (2022) · Leukemia Research · doi:10.1016/j.leukres.2022.106962 · Cited by 12
Clinical and laboratory assessment of a patient with thrombocytosis
Appleby, N., & Angelov, D. (2017) · British Journal of Hospital Medicine · doi:10.12968/hmed.2017.78.10.558 · Cited by 14
“Molecular mechanisms of myeloproliferative neoplasms In 2005, four groups reported the discovery of somatic gain-of-function mutation in the signalling kinase JAK2 of BCR-ABL negative myeloproliferative neoplasms (Baxter et al, 2005; Jones et al, 2005; Kralovics et al, 2005; Levine et al, 2005).”
BackgroundDaitoku, S., Takenaka, K., Yamauchi, T., Yurino, A., Jinnouchi, F., Nunomura, T., Eto, T., Kamimura, T., Higuchi, M., Harada, N., et al. (2016) · Experimental Hematology · doi:10.1016/j.exphem.2016.05.001 · Cited by 14
“To detect phosphorylated signaling mediators, sorted HSCs, CMPs, MEPs and GMPs were stained with PE-conjugated anti-phosphorylated STAT5 (47), anti-phosphorylated MEK1 (J114-64) and anti-phosphorylated STAT1 (4a) as well as Alexa Fluor 647-conjugated antiphosphorylated STAT3 (4) and anti-phosphorylated Erk1/2 (20A) mo…”
MethodPagnano, K., Delamain, M., Magnus, M. M., Vassallo, J., de Souza, C. D., de Almeida, D., & Lorand-Metze, I. (2016) · Oncology Letters · doi:10.3892/ol.2016.4631 · Cited by 12
“The Janus kinase 2 (JAK2) V617F mutation is present in 95% of patients with polycythemia vera (PV) and in ~50% of patients with essential thrombocythemia (ET) and idiopathic myelofibrosis (MF) (2-5).”
Vannucchi, A. M., Cascavilla, N., Stefano, V. D., Pancrazzi, A., Iurlo, A., Gobbi, M., Palandri, F., Specchia, G., Liberati, A. M., D’Adda, M., et al. (2015) · Drug Design Development and Therapy · doi:10.2147/dddt.s79576 · Cited by 9
Mondet, J., Park, J.-H., Ménard, A. L., Marzac, C., Carillo, S., Pourcelot, E., Girodon, F., Cabagnols, X., Lodé, L., Socoro-Yuste, N., et al. (2015) · Haematologica · doi:10.3324/haematol.2014.118927 · Cited by 10
“The JAK2V617F mutation was assessed using purified granulocytes by tetra-primer ARMS-PCR (5) or by allele-specific quantitative PCR (6).”
MethodOritani, K., Okamoto, S., Tauchi, T., Saito, S., Ohishi, K., Handa, H., Takenaka, K., Gopalakrishna, P., Amagasaki, T., Itô, K., et al. (2015) · International Journal of Hematology · doi:10.1007/s12185-015-1746-8 · Cited by 12
“The identification of these activating mutations in JAK2 [11–13] has led to the development of JAK inhibitors as therapies for MF [14].”
BackgroundTanaka, M., Yujiri, T., Ito, S., Okayama, N., Takahashi, T., Shinohara, K., Azuno, Y., Nawata, R., Hinoda, Y., & Tanizawa, Y. (2013) · International journal of hematology · doi:10.1007/s12185-013-1295-y · Cited by 12
“Several independent research groups reported that most patients with PV and about half of those with ET and PMF harbor a unique somatic mutation in the gene encoding janus kinase 2 (JAK2), a pivotal component of the JAK-STAT signaling pathway that has been shown essential for the differentiation and survival of the my…”
BackgroundLieu, C., Shen, Y. J., Lai, W., Tsai, W.-H., & Hsu, H.-C. (2010) · Journal of the Chinese Medical Association · doi:10.1016/s1726-4901(10)70115-5 · Cited by 12
Wu, D., Dutra, B. E., Lindeman, N., Takahashi, H., Takeyama, K., Harris, N., Pinkus, G., Longtine, J., Shipp, M., & Kutok, J. (2009) · Diagnostic molecular pathology (Print) · doi:10.1097/pdm.0b013e3181855c7f · Cited by 12
“The position of the forward outer primer was adjusted to optimize annealing temperatures (50-CAGGCTTACACAGGGGTTTC-30; Tm=601C); no other significant change from the original protocol or primers was made.(10) The adapted system was validated using 10 cases of myeloproliferative disorders in which the JAK2 mutational st…”
MethodInfluentialMolecular diagnosis of myeloproliferative neoplasms
Patnaik, M. M., & Tefferi, A. (2009) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.09.29 · Cited by 11
Absence of JAK2 V617F mutation in thalassemia intermedia patients
Taher, A., Shammaa, D. M. R., Bazarbachi, A., Itani, D. M., Zaatari, G., Greige, L., Otrock, Z., & Mahfouz, R. (2009) · Molecular Biology Reports · doi:10.1007/s11033-008-9350-0 · Cited by 12
Imatinib mesylate therapy for polycythemia vera: final result of a phase II study initiated in 2001
Nussenzveig, R., Cortes, J., Sever, M., Quintás-Cardama, A., Ault, P. S., Manshouri, T., Bueso-Ramos, C., Prchal, J., Kantarjian, H., & Verstovsek, S. (2009) · International journal of hematology · doi:10.1007/s12185-009-0345-y · Cited by 12
“In contrast to other MPNs, more than 90% of patients with PV harbor the JAK2V617F mutation, in both heterozygous and homozygous forms [16, 17].”
BackgroundOlsen, R., Dunphy, C., O'Malley, D. P., Rice, L., Ewton, A., & Chang, C. (2008) · Journal of Hematopathology · doi:10.1007/s12308-008-0014-8 · Cited by 12
Developing assays for kinase drug discovery – where have the advances come from?
Vogel, K., Zhong, Z., Bi, K., & Pollok, B. (2008) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.3.1.115 · Cited by 12
“For example, the constitutive activation of the JAK2/STAT5 pathway due to a V617F mutation in the JAK2 protein is found in high percentage of myeloproliferative disorders, including polycythemia vera, and leads to the growth-factor-independent proliferation of erythroleukemia cells [63,64] .”
BackgroundComparison of diagnostic criteria for polycythaemia vera
Turkington, R., Arnold, E., Percy, M., Ranaghan, L., Cuthbert, R., & McMullin, M. (2007) · Hematology · doi:10.1080/10245330601111797 · Cited by 12
“The JAK2 V617F mutation has been detected in 65-89% of cases of PV [12-15,21,30].”
BackgroundMethodVannucchi, A., Guglielmelli, P., Antonioli, E., Mappa, S., Pancrazzi, A., Bogani, C., Ponziani, V., & Bosi, A. (2006) · British Journal of Haematology · doi:10.1111/j.1365-2141.2005.05951.x · Cited by 12
Steensma, D. P., & Pardanani, A. D. (2006) · Blood · doi:10.1182/blood-2005-09-3646 · Cited by 10
Cho, Y.-U., Chi, H., Lee, E.-H., Jang, S., Park, C.-J., & Seo, E. (2009) · International journal of hematology · doi:10.1007/s12185-008-0222-0 · Cited by 12
“ARMS PCR enables simultaneous amplification of the mutant and normal alleles plus a DNA quality control with just two pairs of primers in a single PCR tube [ 19 ].”
MethodResultInfluentialAyres-Silva, J., Bonamino, M., Gouveia, M., Monte-Mór, B., Coutinho, D., Daumas, A. H., Solza, C., Braggio, E., & Zalcberg, I. (2018) · Frontiers in Oncology · doi:10.3389/fonc.2018.00032 · Cited by 11
“Mutation Screening All genomic DNA samples were tested for V617F allele by allelic specific PCR (ASO PCR) as previously reported (8) with minor modifications (9) and also screened for the following mutations: JAK2 exon 12, MPL exon 10, CALR mutations, SF3B1 exons 14 and 15, IDH1/2 exon 4, and TET2 exons 3 and 9.”
MethodGotlib, J. (2015) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-015-0280-3 · Cited by 11
Calreticulin mutation profile in Indian patients with primary myelofibrosis
Sazawal, S., Singh, N., Mahapatra, M., & Saxena, R. (2015) · Hematology · doi:10.1179/1607845415y.0000000018 · Cited by 11
Tombak, A., Ay, Ö. İ., Erdal, M. E., Sungur, M. A., Uçar, M. A., Akdeniz, A., & Tiftik, E. N. (2015) · Indian Journal of Hematology and Blood Transfusion · doi:10.1007/s12288-014-0492-z · Cited by 13
Expression of O6-methylguanine-DNA methyltransferase in childhood medulloblastoma
Faoro, D., von Bueren, A. V., Shalaby, T., Sciuscio, D., Hürlimann, M.-L., Arnold, L., Gerber, N., Haybaeck, J., Mittelbronn, M., Rutkowski, S., et al. (2011) · Journal of Neuro-Oncology · doi:10.1007/s11060-010-0366-7 · Cited by 11
“Methylation values B5% were considered as potential background noise signals of questionable significance, in concordance with other publications [30–32].”
ResultJAK2 mutations in Asian patients with essential thrombocythaemia
Wong, G., Kam, G., & Koay, E. (2011) · Internal medicine journal (Print) · doi:10.1111/j.1445-5994.2010.02199.x · Cited by 11
Visual screening for JAK2V617F mutation by a disposable dipstick
Konstantou, J. K., Iliadi, A., Ioannou, P., Christopoulos, T. K., Anagnostopoulos, N., Kanavakis, E., & Traeger-Synodinos, J. (2010) · Analytical and Bioanalytical Chemistry · doi:10.1007/s00216-010-3747-z · Cited by 11
Tsantes, A., Dimoula, A., Bonovas, S., Mantzios, G., Tsirigotis, P., Zoi, K., Kalamara, E., Kardoulaki, A., Sitaras, N., Travlou, A., et al. (2010) · Thrombosis Research · doi:10.1016/j.thromres.2009.06.030 · Cited by 11
“The JAK2 V617F mutation was detected using a tetra-primer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR)assaywith a sensitivityof 1% aspreviously described [20].”
Method[Usefulness of real-time semi-quantitative PCR, JAK2 MutaScreen kit for JAK2 V617F screening].
Chae, H., Lee, J., Lim, J.-Y., Jung, S., Kim, M., Kim, Y., Han, K., Cho, B., Cho, S.-G., Lee, J. W., et al. (2009) · The Korean Journal of Laboratory Medicine · doi:10.3343/kjlm.2009.29.3.243 · Cited by 11
“MPDs에서 JAK2 V617F 유전자 변이는 보고에따라다소차이가있지만PV의90-95%, ET의35-70%, CIMF의 50% 정도에서 검출된다고 하며[4, 6, 7] 국내 보고에 서도 ET의 JAK2 V617F 유전자 변이 빈도는 약 50%였다[14].”
Thrombophilia screening: little role for the JAK2V617F mutation.
Mannucci, P., & Peyvandi, F. (2008) · Mayo Clinic proceedings · doi:10.4065/83.4.398 · Cited by 11
“Much more rarely, JAK2V617F is found in patients with chronic myelomonocytic leukemia, myelodysplastic syndromes, systemic mastocytosis, chronic neutrophilic leukemia, and acute myeloid leukemia.(6) Surprisingly, in a Chinese study, the mutation was detected in blood samples of nearly 1% of 3935 study participants who…”
BackgroundFu, J.-F., Shi, J.-Y., Zhao, W.-L., Li, G., Pan, Q., Li, J.-M., Hu, J., Shen, Z.-X., Jin, J., Chen, F.-Y., et al. (2008) · Leukemia · doi:10.1038/sj.leu.2404931 · Cited by 11
Pikman, Y., & Levine, R. (2007) · Current Opinion in Oncology · doi:10.1097/cco.0b013e3282f0e20c · Cited by 11
BCR-ABL-negative chronic myeloid leukemia
Burgstaller, S., Reiter, A., & Cross, N. (2007) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-007-0011-5 · Cited by 11
“Activating RAS mutations are common in malignancy, and about 13% of patients with BCR-ABL–negative CML have activating NRAS mutations [ 39 ].”
BackgroundMyeloproliferative disorders carrying the t(8;9) (PCM1-JAK2) translocation.
Bousquet, M., & Brousset, P. (2006) · Human Pathology · doi:10.1016/j.humpath.2005.12.002 · Cited by 11
Kolossváry, I., & Sherman, W. (2023) · The Journal of Physical Chemistry B · doi:10.1021/acs.jpcb.3c02028 · Cited by 12
Naumann, N., Lübke, J., Shomali, W., Reiter, L., Horny, H., Jawhar, M., Dangelo, V., Fabarius, A., Metzgeroth, G., Kreil, S., et al. (2021) · British Journal of Haematology · doi:10.1111/bjh.17567 · Cited by 10
“It is present in >95% of patients with polycythaemia vera (PV) and in approximately 50–60% of patients with essential thrombocythaemia (ET) and primary myelofibrosis (MF).(1) The constitutive activation of the JAK2 tyrosine kinase results in a sustained cell proliferation of the myeloid lineage and increased cytokine…”
BackgroundBailetti, A. A., Negrón-Piñeiro, L. J., Dhruva, V., Harsh, S., Lu, S., Bosula, A., & Bach, E. A. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.038679 · Cited by 10
“A gain-of-function mutation in the Janus tyrosine kinase JAK2 (JAK2) is the most prevalent mutation in MPNs and accounts for ∼95% of PV cases and ∼60% of ET and PMF cases (Jones et al., 2005; Kralovics et al., 2005; Levine et al., 2005; James et al., 2005; Tefferi, 2016).”
Trifa, A., Bănescu, C., Dima, D., Bojan, A., Tevet, M., Moldovan, V., Vesa, Ș., Murat, M., Pop, I. V., Skrypnyk, C., et al. (2016) · Hematology · doi:10.1080/10245332.2016.1163889 · Cited by 10
Gade, D., Kunala, P., Raavi, D., K, P., & Rajendra Prasad, V. V. S. (2015) · Journal of Receptor and Signal Transduction Research · doi:10.3109/10799893.2014.948556 · Cited by 10
Koh, S., Yip, S. P., Lee, K.-K., Chan, C.-C., Lau, S., Kho, C. S., Lau, C. K., Lin, S.-Y., Lau, Y., Wong, L., et al. (2014) · BMC Genetics · doi:10.1186/s12863-014-0147-y · Cited by 10
“The distribution of V617F in our Hong Kong MPN patients (PV, ET and PMF) is similar to those in other studies [4-7].”
BackgroundResultJak-2 Positive Myeloproliferative Neoplasms
Muxí, P., & Oliver, A. (2014) · Current Treatment Options in Oncology · doi:10.1007/s11864-014-0279-3 · Cited by 10
Collier, P., Patel, K., Waeltz, P., Rupar, M., Luthra, R., Liu, P. C. C., Hollis, G., Huber, R., Verstovsek, S., & Burn, T. (2013) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2012.0366 · Cited by 10
“…direct sequencing (Baxter et al. , 2005; James et al. , 2005; Kralovics et al. , 2005; Levine et al. , 2005), pyrosequencing (Jelinek et al. , 2005; Jones et al. , 2005), real-time PCR (James et al. , 2006; Levine et al. , 2006), allele-specific PCR (Jones et al. , 2005; McClure et al. , 2006), PCR…”
Toogeh, G., Ferdowsi, S., Naadali, F., Alimoghaddam, K., Ghavamzadeh, A., Shirkoohi, R., & Ghaffari, S. H. (2011) · Medical Oncology · doi:10.1007/s12032-010-9570-8 · Cited by 10
“Based on this result, a search for JAK2 V617F mutation by amplification refractory mutation assay (ARMS-PCR) [ 13 ] in a blood sample taken at that time confirmed the presence of the homozygote mutation (Fig. 1). Molecular analysis by reverse transcriptase polymerase chain reaction (RT‐PCR) showed BCR-ABL/BCR mRNA b3a…”
Tsantes, A., Nikolopoulos, G., Tsirigotis, P., Zoi, K., Zomas, A., Kapsimali, V., Kopterides, P., Chondropoulos, S. D., Dervenoulas, J., & Mantzios, G. (2011) · Blood Coagulation and Fibrinolysis · doi:10.1097/mbc.0b013e3283488494 · Cited by 10
Shepard, G., Lawson, H. L., Hawkins, G. A., & Owen, J. (2011) · International Journal of Laboratory Hematology · doi:10.1111/j.1751-553x.2010.01282.x · Cited by 10
Kirabo, A., & Sayeski, P. (2010) · Pharmaceuticals · doi:10.3390/ph3113478 · Cited by 10
“The Jak2-V617F mutation has also been implicated in other Jak2 mediated human diseases such as chronic myelomonocytic leukemia, myelodysplastic syndrome, systemic mastocytosis, chronic neutrophilic leukemia, and acute myeloid leukemia [84-86].”
BackgroundPotential of Human Induced Pluripotent Stem Cells Derived from Blood and Other Postnatal Cell Types
Ye, Z., & Cheng, L. (2010) · Regenerative Medicine · doi:10.2217/rme.10.38 · Cited by 14
Hsiao, H.-H., Yang, W.-C., Liu, Y.-C., Lee, C.-P., & Lin, S.-F. (2008) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2007.11.004 · Cited by 10
Kondo, T., Okuno, N., Naruse, H., Kishimoto, M., Tasaka, T., Tsujioka, T., Matsuoka, A., Sugihara, T., Tohyama, Y., & Tohyama, K. (2008) · Leukemia and Lymphoma · doi:10.1080/10428190802258972 · Cited by 10
Ohyashiki, K., Hori, K., Makino, T., & Ohyashiki, J. (2007) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2007.07.008 · Cited by 10
Andrikovics, H., Szilvási, A., Meggyesi, N., Király, V., Halm, G., Lueff, S., Nahajevszky, S., Mikala, G., Sipos, A., Lovas, N., et al. (2007) · Orvosi Hetilap · doi:10.1556/oh.2007.27860 · Cited by 10
Marková, J., Průková, D., Volková, Z., & Schwarz, J. (2007) · Leukemia and Lymphoma · doi:10.1080/10428190601137328 · Cited by 10
“This corresponds with previous findings that in ET, homozygosity of the JAK2 mutant allele is rare in spite of the relatively frequent occurrence of the heterozygous state [11,12].”
ResultChronic myeloproliferative disorders--introduction.
Skoda, R., & Prchal, J. (2005) · Seminars in hematology (Print) · doi:10.1053/j.seminhematol.2005.08.004 · Cited by 10
The Negative Regulation of JAK/STAT Signaling
Murphy, J. M., Tannahill, G. M., Hilton, D. J., & Greenhalgh, C. J. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374145-5.00064-4 · Cited by 12
Choi, H., Hong, J., Hwang, S., Lee, J. H., Ma, Y., Kim, S.-A., Lee, J.-Y., Lee, J.-O., & Bang, S. (2021) · Annals of Hematology · doi:10.1007/s00277-021-04527-7 · Cited by 9
Emerging agents and regimens for polycythemia vera and essential thrombocythemia
Shallis, R., & Podoltsev, N. (2021) · Biomarker Research · doi:10.1186/s40364-021-00298-5 · Cited by 9
Lighezan, D., Bojan, A., Iancu, M., Pop, R., Gligor-Popa, Ș., Tripon, F., Cosma, A.-S., Tomuleasa, C., Dima, D., Zdrenghea, M., et al. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm10040259 · Cited by 9
“JAK2 V617F mutation was assessed using a tetra-primer PCR assay until 2015, and thereafter using a real-time PCR assay [28,29].”
MethodNon-receptor Tyrosine Kinases Role and Significance in Hematological Malignancies
Azevedo, A. P., Silva, S., & Rueff, J. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.84873 · Cited by 9
Molecular genetics of BCR-ABL1 negative myeloproliferative neoplasms in India
Rabade, N., Subramanian, P., Kodgule, R., Raval, G., Joshi, S., Chaudhary, S., Mascarenhas, R., Tembhare, P. R., Gujral, S., & Patkar, N. V. (2018) · Indian Journal of Pathology and Microbiology · doi:10.4103/ijpm.ijpm_223_17 · Cited by 10
“The V617F assay was validated by both Sanger sequencing, and an amplification refractory mutation system PCR assay as described by Jones et al.[10] CALR and MPL mutations were validated by Sanger sequencing.”
MethodFerdowsi, S., Atarodi, K., Amirizadeh, N., Toogeh, G., Azarkeivan, A., Shirkoohi, R., Faranoush, M., Vaezi, M., Alimoghaddam, K., Ghavamzadeh, A., et al. (2015) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.12381 · Cited by 9
“This finding is in accordance with findings of other authors [14, 28].”
MethodResultWu, Z.-Y., Zhang, Y.-Q., Zhang, X.-J., Xu, X., Kang, Z.-H., Li, S.-B., Zhang, C., Su, B., & Guan, M. (2014) · BioMed Research International · doi:10.1155/2014/458457 · Cited by 9
Dasari, S., Naha, K., Hande, M., & Vivek, G. (2013) · BMJ Case Reports · doi:10.1136/bcr-2013-200087 · Cited by 9
Poopak, B., Hagh, M. F., Saki, N., Elahi, F., Rezvani, H., Khosravipour, G., Jahangirpour, M., Bolouri, S., Golkar, T., & Falah, P. (2013) · doi:10.3906/sag-1205-11 · Cited by 9
Soriano, G., & Heaney, M. (2013) · Current opinion in hematology · doi:10.1097/moh.0b013e32835d82fe · Cited by 9
Chronic neutrophilic leukemia with JAK2 gene mutation
Ortiz-Cruz, K. L., Amog-Jones, G. F., & Salvatore, J. R. (2012) · doi:10.1016/j.cmonc.2012.03.012 · Cited by 9
Peterson, E. A., Zypchen, L., Lee, V., Nitta, J. Y., & Foltz, L. (2011) · American journal of hematology/oncology · doi:10.1002/ajh.22094 · Cited by 9
Kim, J. T., Cho, Y., Choi, S.-I., Lee, Y. J., Kim, H. R., Jang, S., Moon, D., Park, Y. J., & Park, G. (2010) · The Korean Journal of Laboratory Medicine · doi:10.3343/kjlm.2010.30.6.567 · Cited by 9
“BCR/ABL1 음성 MPN에서 V617F 돌연변이에 대한 많은 임상연구들이 있다[6-9].”
Metadata
- Authors
- Jones, A. V.
- Affiliations
- Cornell University (US)
- Corresponding author
- Jones, A. V.
- ORCID
- Jones, A. V.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2005-09-15
- Volume
- 106
- Issue
- 6
- Pages
- 2162-2168
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2126665281
- Cited by
- 843
- References
- 0
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 17 · 2023: 22 · 2022: 12 · 2021: 19 · 2020: 21 · 2019: 30 · 2018: 15 · 2017: 21 · 2016: 32 · 2015: 47 · 2014: 38 · 2013: 46 · 2012: 40
- FWCI
- 43.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- JAK2 V617F mutation, myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, primary myelofibrosis, idiopathic hypereosinophilic syndrome, tyrosine kinase signaling, mutation prevalence
- MeSH terms
- Chronic Disease, Female, Homozygote, Humans, Male, Myeloproliferative Disorders, Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Signal Transduction, Prevalence, Case-Control Studies, Molecular Epidemiology, Microsatellite Repeats, Mutation, Missense, Janus Kinase 2
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